Canonical Allele Identifier: CA251887
Gene: LPL HGNC NCBI

Linked Data

ClinVar Variation Id: 1550
ClinVar RCV Id: RCV000001615 RCV000781944 RCV000988041 RCV001356263 RCV002222335 RCV002371753 RCV002467488
dbSNP Id: rs268
ExAC: 8:19813529 A / G
gnomAD v2: 8-19813529-A-G
gnomAD v3: 8-19956018-A-G
gnomAD v4: 8-19956018-A-G
MyVariant Identifiers: chr8:g.19813529A>G (hg19) chr8:g.19956018A>G (hg38)
PubMed: PMID:8541837
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19956018A>G , CM000670.2:g.19956018A>G GRCh38
NC_000008.10:g.19813529A>G , CM000670.1:g.19813529A>G GRCh37
NC_000008.9:g.19857809A>G NCBI36
NG_008855.1:g.21948A>G
NG_008855.2:g.59302A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000650287.1:c.953A>G MANE Select ENSP00000497642.1:p.Asn318Ser
ENST00000650478.1:c.14A>G ENSP00000497560.1:p.Asn5Ser
ENST00000311322.8:c.953A>G ENSP00000309757.6:p.Asn318Ser
NM_000237.2:c.953A>G NP_000228.1:p.Asn318Ser
NM_000237.3:c.953A>G MANE Select NP_000228.1:p.Asn318Ser
Search 100 bp 5'
Search 100 bp 3'